Linked Data
ClinVar Variation Id:
294960
dbSNP Id:
rs756122840
ExAC:
1:204129782 G / A
gnomAD v2:
1-204129782-G-A
gnomAD v3:
1-204160654-G-A
gnomAD v4:
1-204160654-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204160654G>A , CM000663.2:g.204160654G>A | GRCh38 |
| NC_000001.10:g.204129782G>A , CM000663.1:g.204129782G>A | GRCh37 |
| NC_000001.9:g.202396405G>A | NCBI36 |
| NG_012122.1:g.10684C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272190.9:c.398C>T MANE Select | ENSP00000272190.8:p.Ser133Leu | |
| ENST00000638118.1:c.284C>T | ENSP00000490307.1:p.Ser95Leu | |
| ENST00000272190.8:c.398C>T | ENSP00000272190.8:p.Ser133Leu | |
| NM_000537.3:c.398C>T | NP_000528.1:p.Ser133Leu | |
| NM_000537.4:c.398C>T MANE Select | NP_000528.1:p.Ser133Leu |